Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF145_chr5_159152409_159214553	159165389	AAATAATA others(338): Show AAATAATATCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(256): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19059.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0003 a0001c0004t0001 a0001c0006t0003 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0311 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0005g0042 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0315 a0001c0001t0006g0316 a0001c0001t0007g0014 a0001c0001t0007g0051 a0001c0001t0008g0293 a0001c0001t0008g0294 a0001c0001t0009g0039 a0001c0001t0011g0043 a0001c0001t0014g0052 a0001c0001t0015g0108 a0001c0001t0016g0278 a0001c0001t0017g0122 a0001c0001t0019g0152 a0001c0001t0020g0321 a0001c0001t0021g0322 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0310 a0001c0002t0003g0312 a0001c0004t0001g0165 a0001c0006t0003g0308 a0002c0005t0001g0134	259	394	0.6574	-345	c.112 others(19): Show c.1122-2655_1122-2311del	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	8/10			chr5	TogoVar
ROCK2_chr2_11174759_11349636	11334633	AGCCAAGA others(338): Show AGCCAAGAAGCATATATGAAGGCAATGCTTAGCATATTAAGCATTTGTCA ACACAATCATGCAGGTAATTAAGACAATACCAGCCCTGCTCTGGCGCGTT TCTATCTAAATAAAGTACTGCTAGAGAACACTTCGCTAATTCATTTCCAT GGCATAGAAACCTCAATAATTAAACATTAGAAATTGTTCCAAGTCTATAA TCCCTTGAAAATAAAATGTCTATCACTTGCTTTATAACTAAAGAAATCTG AGGTGAAACTCTTTTAGAGAATAAAGGAATTCAGACATTGAATATAAGTG GTCAATCACCTATGACAAAAAAAAATTATAAAGCACTTTAGATATC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0031 a0002c0013t0031	a0002c0013t0031g0004 a0002c0013t0031g0004	1	320	0.0031	-345	c.141 others(17): Show c.141+9018_141+9362del	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPH3AL_chr17_207389_357807	303822	GAGGGAGG others(338): Show GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGG CTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAG AGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAG TGACCGTGTTTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGT TTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGTGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	133	0.0075	-345	c.351 others(19): Show c.351+15253_351+15597del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79919511	CAGGAACC others(338): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGG TCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAG AGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGG AGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	352	0.0028	-345	c.392 others(15): Show c.392-456_392-112del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919702	CAGGAACC others(338): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCG AGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0233 a0001c0001t0036g0233	1	352	0.0028	-345	c.392 others(15): Show c.392-647_392-303del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SPAG16_chr2_213279464_214415501	213981845	TGACAAAA others(338): Show TGACAAAAGGTTTTAAAGTCCGAATTTAATTCATGAAGGTATCCATTTTC TTGGATTAAAATTCTAGTTTCTGATTTTTTTACATTTCAAAAACACTATA CCTTTTTCTAAATTATGTATATTTTTCTGTTTGTAAGGAAAGTGTAGAGC TTACAACAGAGACATAGAGAAAATATTGACTATACTAAAGTTAGCAACTG ATATATGTTATAGATGAACTGTAACAAATATGTCCTTAGTGAAATATAAA ATGATGTTGTTATAATAACGTTAGAGTTCTAGTTAGTACTACATTCAATT TGTATTCAATTTGCGACAATTTAAAAGTTATTAACCTATATTCTAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	86	0.0116	-345	c.140 others(21): Show c.1401-32105_1401-31761del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15			chr2	TogoVar
SRL_chr16_4184374_4247080	4201526	CTCAGCCT others(338): Show CTCAGCCTCCCAAACTGCTGGGACTATAGGTGTGAGCCACTGTGCCCGGC CATCGGATTGTTTTTAAAAGTGCTATGAGCCATCACGCTGGGCCCAATTT TTGTGTGTGTGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGA GATGGAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTGTTGCCTCACC CTCCTGAGTAGCTAGGATTACAGCCGCCAGCCACTAGGCAGGGCTAATTT TTGTATTTTTAATAGAAACGGGGTTTCACCATGTTGGCTGGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0267 a0001c0001t0036g0267	1	358	0.0028	-345	c.259 others(17): Show c.259+1295_259+1639del	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	3/5			chr16	TogoVar
TMEM248_chr7_66916225_66963551	66932602	GCCTCCCA others(338): Show GCCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAATAGCTGGGA TTACAGGCGCACGCTGCCACTCCCGGCTAATTTGTTGTATTTTTAGTAGA GATGGGGTTTCACCATGTTGCCCAAGCTAGTCTCGAACTCCTGAGCTCAG GCAGTCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGC CACCGCGCCTGGCCGATTTTATTTTTTTATGGCAACTGTATGTGATATTT TAAGATCCTGTGGGTGTTTTGTTTGTTTGTTTTGAGACAGAGTCTCACTC CATCACCCAGGCTGGAGTGTAGTGGCACGATCTTAGCTCAATTCAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01928.hp1 HG01934.hp2 others(23): Show HG00438.hp2 HG01928.hp1 HG01934.hp2 HG02523.hp1 NA18939.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18963.hp2 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19072.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0014 others(17): Show a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0014 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0105 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0110	26	398	0.0653	-345	c.-18 others(17): Show c.-18-9225_-18-8881del	TMEM248	ENSG00000106609.16	transcript	ENST00000341567.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TTLL8_chr22_50013575_50063298	50029052	GTCCTGAA others(338): Show GTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0144 a0004c0004t0001g0144	1	224	0.0045	-345	c.225 others(19): Show c.2251+1033_2251+1377del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
WDR47_chr1_108965214_109047102	109008518	TTCCCAAA others(338): Show TTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGCGCCGGGCCTCATC CTGTATTTCTTATGCTTTAACTAAGGATCTCCACTTGCTCTAATCATTAT TATTTTTTGAGACGGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGG TGCGATCTAGGCTGACTGCAACCTCCACTTCCCAGGTTCAAGCGATTCTC CTGCGTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGTGCCACCACACC CAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGACA GGTTAGTCTTGAATTCCTGACCTCAAGTGATCCACCCACCTCGGCC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	344	0.0029	-345	c.113 others(19): Show c.1130+2053_1130+2397del	WDR47	ENSG00000085433.17	transcript	ENST00000369962.8	protein_coding	5/14			chr1	TogoVar
WDR7_chr18_56646359_57034792	57024589	TATCCCTA others(338): Show TATCCCTATTCTCAGGCAGGAATAGGGATATGTGAGCTATGATAGTTATG TCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATAT GTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGAT AGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGGCAGGAATA GGGATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp1 HG02738.hp1 HG00735.hp1 HG01361.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0055 a0001c0002t0002g0054 a0001c0002t0002g0061 a0001c0001t0002g0055 a0001c0002t0002g0054 a0001c0002t0002g0061	3	144	0.0208	-345	c.427 others(19): Show c.4270-2393_4270-2049del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
AFDN_chr6_167821911_167977023	167940211	AGATGTAG others(337): Show AGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGGACAG ACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATCCACAGGAGACATGT GGACAGACACAGAGGGATGTAGGTGTGAGGGTGGAAACCATCCACAGGAG AGATGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAGCCATC CACAGGAGACGTGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAA ACCATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGGTGA GGGTGGAAGCCATCCACAGGAGAGATGTGTGGACAGACACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	326	0.0031	-344	c.310 others(19): Show c.3100-2595_3100-2252del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFDN_chr6_167821911_167977023	167941023	ATGAGGGT others(337): Show ATGAGGGTGGAAACCATCCACAGGAGAGGTGTGTGGACAGACACAGAGGG ATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAGATGTGGACAGACAC AGAGGGATGTAGGGGTGAGGGTGGAAACCATCCACAGGAGAGATGTGTGG ACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCACAGGAGAG GTGTGTGGACAGACACAGAGGGATGTAGGGATGAGGGTGGAAACCATCCA CAGGAGAGATGTGGACAGACACAGAGGGATGTAGGGGTGAGGGTGGAAAC CATCCACAGGAGAGATGTGTGGACAGACACAGAGGGATGTAGGGG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	326	0.0031	-344	c.310 others(19): Show c.3100-2020_3100-1677del	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	23/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ATP2B2_chr3_10319023_10510586	10355788	TTCCGGCC others(337): Show TTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGT GGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTACTTG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0185 a0001c0002t0006g0185	1	290	0.0035	-344	c.213 others(19): Show c.2136+2559_2136+2902del	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	14/22			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79327584	GTGGTTAA others(337): Show GTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGTGTGCC CTCCCTGGTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCG TGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGG TTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTAACGTGCTCTCC GTGGTTAGCGTGCTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGTGTGTT CTCCGTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTCTCCATGGATAGTG TGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0168 a0005c0009t0005g0168	1	298	0.0034	-344	c.177 others(19): Show c.1774-1550_1774-1207del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65866002	TAAGAATG others(337): Show TAAGAATGAAACTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAA AAAAAAAAAAAAACAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(158): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(19): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0017 a0001c0020 a0001c0021 a0001c0024 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0014 a0002c0015 a0002c0016 a0002c0018 a0002c0023 a0003c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0078 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0006t0002 a0001c0006t0027 a0001c0006t0031 a0001c0006t0034 a0001c0006t0059 a0001c0006t0060 a0001c0006t0065 a0001c0007t0011 a0001c0007t0032 a0001c0007t0062 a0001c0007t0063 a0001c0007t0064 a0001c0008t0008 a0001c0008t0011 a0001c0008t0016 a0001c0008t0025 a0001c0009t0009 a0001c0009t0038 a0001c0009t0086 a0001c0011t0002 a0001c0011t0008 a0001c0012t0009 a0001c0013t0008 a0001c0017t0005 a0001c0020t0002 a0001c0021t0002 a0001c0024t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0015 a0002c0002t0042 a0002c0002t0044 a0002c0002t0052 a0002c0002t0057 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0096 a0002c0002t0097 a0002c0004t0003 a0002c0004t0017 a0002c0004t0024 a0002c0004t0026 a0002c0004t0029 a0002c0004t0030 a0002c0004t0045 a0002c0004t0050 a0002c0004t0076 a0002c0004t0077 a0002c0004t0094 a0002c0005t0012 a0002c0005t0022 a0002c0005t0066 a0002c0005t0067 a0002c0005t0068 a0002c0005t0069 a0002c0010t0003 a0002c0014t0015 a0002c0014t0043 a0002c0015t0026 a0002c0015t0051 a0002c0016t0056 a0002c0018t0093 a0002c0023t0025 a0003c0022t0012	a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0132 others(158): Show a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0165 a0001c0001t0005g0167 a0001c0001t0005g0178 a0001c0001t0005g0199 a0001c0001t0007g0025 a0001c0001t0007g0032 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0007g0048 a0001c0001t0016g0066 a0001c0001t0020g0142 a0001c0001t0020g0157 a0001c0001t0020g0163 a0001c0001t0028g0121 a0001c0001t0028g0187 a0001c0001t0046g0019 a0001c0001t0047g0091 a0001c0001t0048g0028 a0001c0001t0049g0026 a0001c0001t0053g0061 a0001c0001t0054g0059 a0001c0001t0055g0058 a0001c0001t0078g0149 a0001c0001t0083g0205 a0001c0001t0084g0192 a0001c0001t0085g0164 a0001c0001t0087g0118 a0001c0001t0088g0161 a0001c0001t0089g0184 a0001c0001t0090g0123 a0001c0001t0091g0170 a0001c0001t0092g0176 a0001c0001t0095g0160 a0001c0006t0002g0072 a0001c0006t0027g0147 a0001c0006t0027g0148 a0001c0006t0031g0074 a0001c0006t0034g0075 a0001c0006t0059g0179 a0001c0006t0060g0096 a0001c0006t0065g0133 a0001c0007t0011g0017 a0001c0007t0011g0069 a0001c0007t0032g0068 a0001c0007t0062g0102 a0001c0007t0063g0195 a0001c0007t0064g0145 a0001c0008t0008g0117 a0001c0008t0008g0151 a0001c0008t0011g0062 a0001c0008t0016g0012 a0001c0008t0016g0085 a0001c0008t0025g0010 a0001c0009t0009g0120 a0001c0009t0009g0202 a0001c0009t0038g0057 a0001c0009t0086g0119 a0001c0011t0002g0007 a0001c0011t0002g0008 a0001c0011t0008g0097 a0001c0012t0009g0152 a0001c0012t0009g0153 a0001c0012t0009g0154 a0001c0013t0008g0116 a0001c0013t0008g0155 a0001c0017t0005g0207 a0001c0020t0002g0067 a0001c0021t0002g0034 a0001c0024t0002g0082 a0002c0002t0001g0189 a0002c0002t0003g0015 a0002c0002t0003g0035 a0002c0002t0003g0042 a0002c0002t0003g0047 a0002c0002t0003g0054 a0002c0002t0003g0087 a0002c0002t0003g0092 a0002c0002t0010g0036 a0002c0002t0010g0037 a0002c0002t0010g0039 a0002c0002t0010g0044 a0002c0002t0015g0003 a0002c0002t0015g0004 a0002c0002t0042g0022 a0002c0002t0044g0038 a0002c0002t0052g0083 a0002c0002t0057g0011 a0002c0002t0073g0103 a0002c0002t0074g0114 a0002c0002t0075g0108 a0002c0002t0096g0150 a0002c0002t0097g0065 a0002c0004t0003g0078 a0002c0004t0017g0020 a0002c0004t0017g0076 a0002c0004t0017g0094 a0002c0004t0024g0013 a0002c0004t0024g0014 a0002c0004t0026g0009 a0002c0004t0029g0177 a0002c0004t0029g0197 a0002c0004t0030g0193 a0002c0004t0030g0200 a0002c0004t0045g0002 a0002c0004t0050g0071 a0002c0004t0076g0144 a0002c0004t0077g0100 a0002c0004t0094g0095 a0002c0005t0012g0052 a0002c0005t0012g0088 a0002c0005t0022g0033 a0002c0005t0022g0053 a0002c0005t0066g0196 a0002c0005t0067g0115 a0002c0005t0068g0098 a0002c0005t0069g0203 a0002c0010t0003g0056 a0002c0014t0015g0104 a0002c0014t0043g0105 a0002c0015t0026g0001 a0002c0015t0051g0081 a0002c0016t0056g0093 a0002c0018t0093g0208 a0002c0023t0025g0106 a0003c0022t0012g0070	161	208	0.7740	-344	c.186 others(19): Show c.1864+3102_1864+3445del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTNAP2_chr7_146111801_148425998	148365838	ACATGCAT others(337): Show ACATGCATGTGTATGCATGTATACATGTATGTGTATGCATGTATACATGT ATGTGTATGCATGTATACATGCGTGTATGCATGTATACATGCGTGTATGC ATGTATACATGCGTGTATGCATGTATACATGTGTGTATGCATGTATACAT GTGTGTATGCATGTATGCATGTGTGTATGCATGTATGCATGTGTGTGTAT GCATGTATGCATGTGTGTGTATGCATGTATGCATGTATGTGTGTGCATGT ATACATGTATGTGTATGCATGTATGCATGTATGTGTATGCATGTATGCAT GTATGTGTATGCATGTATGCATGTATGTGTGTGCATGTATACATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0020 a0001c0015t0001 a0001c0003t0020 a0001c0015t0001	a0001c0003t0020g0017 a0001c0015t0001g0011 a0001c0003t0020g0017 a0001c0015t0001g0011	2	40	0.0500	-344	c.347 others(21): Show c.3476-17810_3476-17467del	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CUL4A_chr13_113204613_113272108	113262765	ATCGGGTC others(337): Show ATCGGGTCTGCCTCACTTATACGTGCCCTTGCTGATGGCAGATGTCGGAT CTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTC GCTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATA CGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCGCTTATACGTGCCC TTGCTGATGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGA TGGCAGATGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGA TGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0043 a0002c0002t0015g0043	1	396	0.0025	-344	c.218 others(17): Show c.2185-649_2185-306del	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
ERC1_chr12_986223_1500931	1121901	ATCTCTAT others(337): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTAT CTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0054 a0002c0002t0053 a0002c0002t0054	a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0053g0136 a0002c0002t0054g0135	2	162	0.0124	-344	c.156 others(19): Show c.1569+5870_1569+6213del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	714139	CGCATCTC others(337): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGG CCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTC CCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0324 a0001c0002t0002g0324	1	378	0.0027	-344	c.169 others(17): Show c.169+1378_169+1721del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805330	TCCCCCCT others(337): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	314	0.0032	-344	c.11 others(11): Show c.1165_*1508del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1044		chr2	TogoVar
GRIN2D_chr19_48388668_48449931	48412850	GGAGGGCA others(337): Show GGAGGGCATGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAG GCAGGTGGATCACTGAGGCTGAGGTCAGGAGTTCTAGACCAGTCTGGCCA ACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACATG GTGGTGAACACCTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAT TGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGACCATACCATTG CACTCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAACAAAAAC AAAAACAAACAAAAAAACCACACATTAAAAAAAAAAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18963.hp1 NA19090.hp2 HG02109.hp2 NA18963.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0150 a0001c0002t0002g0301 a0001c0003t0002g0333 a0001c0001t0001g0150 a0001c0002t0002g0301 a0001c0003t0002g0333	3	366	0.0082	-344	c.108 others(17): Show c.1086-944_1086-601del	GRIN2D	ENSG00000105464.4	transcript	ENST00000263269.4	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
HACL1_chr3_15555699_15606569	15592550	ATGTGTGC others(337): Show ATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGT ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	428	0.0023	-344	c.228 others(16): Show c.228-1214_228-871del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
KCNK13_chr14_90056994_90190853	90183637	AGTTCTAT others(337): Show AGTTCTATCCCCAGGTCAATAAGTGTTTGCAGAATAAATGAATTCTGATG AGTCTGTATAAGCCTCTTCTTTGTATGAGCCTTTGCTTCTCTCTCTAAAC ATGATCTGTTGAGTATGGTTGTTCAGGTTGTGGACTGTACAAGGATATCT AGCAGAGAAGGGAAAGGAGGCTGAAATCCAGCCCACATTCTTGTCACCAA GCCATTTTTTGCTGGCTGTGTCCACCATGAGGATGAGGTGCTATTCTCCT GATTTGCACAATAGCACCACACAGGCTTTCAGCAGCCTAGCTCTGAACAA CACTTAGTGTCTTCAAAAGCAGGTGAGAATTCTCCTGCTCATTCC	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	320	0.0031	-344	c.335 others(15): Show c.335-473_335-130del	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1			chr14	TogoVar
KNDC1_chr10_133155219_133231412	133223066	TGTGTGTG others(337): Show TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCA TGCTCTTCCCGGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTC TCGGCATGTGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTGTTC CCGGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCTCGG CGTGTGTGTGTCTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0012 a0012	a0012c0018 a0012c0045 a0012c0018 a0012c0045	a0012c0018t0006 a0012c0045t0006 a0012c0018t0006 a0012c0045t0006	a0012c0018t0006g0267 a0012c0045t0006g0244 a0012c0018t0006g0267 a0012c0045t0006g0244	2	332	0.0060	-344	c.501 others(19): Show c.5019-1592_5019-1249del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29			chr10	TogoVar
MLPH_chr2_237482251_237560322	237543578	GGGGGACA others(337): Show GGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGA GTGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTG ACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGT GGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACA GTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGA CAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0213 a0001c0001t0012g0213	1	286	0.0035	-344	c.153 others(18): Show c.1539+939_1539+1282del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241805330	TCCCCCCT others(337): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	-344	c.-39 others(11): Show c.-3947_-3604del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3862		chr2	TogoVar
NOC4L_chr12_132139457_132157468	132150016	CACACCCC others(337): Show CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	294	0.0034	-344	c.902 others(15): Show c.902-964_902-621del	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
OR11H2_chr14_19707936_19718883	19713937	TAAAATGT others(337): Show TAAAATGTGTTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19030.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0002c0002 a0002c0009 others(11): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0005c0005 a0007c0007 a0008c0008 a0009c0010 a0010c0016 a0014c0015 a0015c0014 a0016c0013 a0017c0012 a0018c0011	a0001c0001t0000 a0002c0002t0000 a0002c0009t0000 others(11): Show a0001c0001t0000 a0002c0002t0000 a0002c0009t0000 a0003c0003t0000 a0005c0005t0000 a0007c0007t0000 a0008c0008t0000 a0009c0010t0000 a0010c0016t0000 a0014c0015t0000 a0015c0014t0000 a0016c0013t0000 a0017c0012t0000 a0018c0011t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0002c0009t0000g0000 others(11): Show a0001c0001t0000g0000 a0002c0002t0000g0000 a0002c0009t0000g0000 a0003c0003t0000g0000 a0005c0005t0000g0000 a0007c0007t0000g0000 a0008c0008t0000g0000 a0009c0010t0000g0000 a0010c0016t0000g0000 a0014c0015t0000g0000 a0015c0014t0000g0000 a0016c0013t0000g0000 a0017c0012t0000g0000 a0018c0011t0000g0000	182	238	0.7647	-344	c.-39 others(8): Show c.-398_-55del	OR11H2	ENSG00000258453.4	transcript	ENST00000556246.3	protein_coding		55		chr14	TogoVar
OTUD7A_chr15_31470398_31875673	31510559	TACATATG others(337): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00738.hp1 others(5): Show HG00408.hp2 HG00438.hp1 HG00738.hp1 HG01169.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0015 a0001c0002t0045 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0045 a0002c0003t0009	a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0002g0189 others(5): Show a0001c0001t0002g0118 a0001c0001t0002g0127 a0001c0001t0002g0189 a0001c0001t0015g0173 a0001c0001t0015g0174 a0001c0001t0015g0190 a0001c0002t0045g0065 a0002c0003t0009g0117	8	244	0.0328	-344	c.894 others(17): Show c.894-7085_894-6742del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCGF3_chr4_700832_775089	746579	CGGGGGTC others(337): Show CGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 HG01891.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0286 a0001c0001t0004g0188 a0001c0001t0004g0286	2	366	0.0055	-344	c.462 others(17): Show c.462+1896_462+2239del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFD_chr11_103902189_104169147	104139745	TAATAAAT others(337): Show TAATAAATAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGTGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(138): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18949.hp2 NA18953.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA19002.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0007 a0001c0006t0002 a0002c0003t0006 a0002c0003t0018 a0003c0005t0002	a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0056 others(138): Show a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0181 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0007g0122 a0001c0001t0007g0186 a0001c0001t0009g0124 a0001c0001t0009g0154 a0001c0001t0009g0192 a0001c0001t0010g0067 a0001c0001t0011g0116 a0001c0001t0015g0165 a0001c0001t0016g0117 a0001c0001t0019g0153 a0001c0001t0020g0197 a0001c0001t0021g0199 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0194 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0096 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0005g0094 a0001c0002t0005g0108 a0001c0002t0005g0180 a0001c0002t0005g0188 a0001c0002t0005g0191 a0001c0002t0006g0088 a0001c0002t0008g0103 a0001c0002t0012g0147 a0001c0002t0012g0189 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0002t0014g0198 a0001c0002t0014g0200 a0001c0004t0007g0092 a0001c0006t0002g0159 a0002c0003t0006g0182 a0002c0003t0018g0087 a0003c0005t0002g0187	141	200	0.7050	-344	c.124 others(19): Show c.124+23715_124+24058del	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2123215	AGGGTCGT others(337): Show AGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGT TAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGG TTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTG GTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGT GGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02622.hp1 NA18968.hp1 others(3): Show HG00621.hp2 HG02622.hp1 NA18968.hp1 NA18971.hp2 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0113 a0001c0002t0001g0004 a0001c0002t0001g0281 others(3): Show a0001c0001t0001g0113 a0001c0002t0001g0004 a0001c0002t0001g0281 a0001c0004t0001g0010 a0001c0004t0002g0036 a0001c0004t0002g0039	6	286	0.0210	-344	c.335 others(19): Show c.335-12045_335-11702del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RELCH_chr18_62182255_62315249	62280991	CTTTCTGA others(337): Show CTTTCTGATTGGGCCAGTAAAGCCCCTTCCTCTTCCCTCTTTTCTACTTA TCACTAGAGACAGAAACTAAAAACCCCGGCTTCAGGCTGCTAAAAGCCTT AAACAAAACAAAACAGAACAACAACAAAATAAGGTGTATTGGACAAGCTT GCTAGATGTTCTATTGTAAGCTGAGCTGGATGTTGCAGTTTTGAATAATC CTTCAAATCAGGTCTAGTTCCAAAGCCTTCTATTACCCGGTAGGCTTCTG GCCAATCTACATAAATTCTTGATTGCCAGTGTTGCACAGATTTGAGGACT GTTTTCCCAGATAACATCATTAGGAACACAAATGTATCTCAGTTA	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	340	0.0029	-344	c.311 others(17): Show c.3114+284_3114+627del	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
SHC2_chr19_411589_466033	432584	TAGATGGC others(337): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	212	0.0047	-344	c.111 others(19): Show c.1110+1781_1111-1838del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432866	CGGGCAGA others(337): Show CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0104 a0001c0020t0001g0104	1	212	0.0047	-344	c.111 others(19): Show c.1110+1499_1110+1842del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC66A2_chr18_79897420_79956653	79919654	TGGGGAGA others(337): Show TGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTC AGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAG ACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAG TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0169	1	352	0.0028	-344	c.392 others(15): Show c.392-598_392-255del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79919931	CAGGAACC others(337): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCG AGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAG GAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0285 a0001c0001t0008g0285	1	352	0.0028	-344	c.392 others(15): Show c.392-875_392-532del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920837	TGAGGAGA others(337): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0177 a0001c0001t0009g0177	1	352	0.0028	-344	c.392 others(17): Show c.392-1781_392-1438del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921410	TGAGGAGA others(337): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0168 a0001c0001t0010g0170 a0001c0001t0010g0171 a0001c0001t0010g0168 a0001c0001t0010g0170 a0001c0001t0010g0171	3	352	0.0085	-344	c.392 others(17): Show c.392-2354_392-2011del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SRGAP2B_chr1_144882288_145100328	144882950	AAAAAGCC others(337): Show AAAAAGCCGGGTCGGGCAAAAAGCCGCGGAGGCAAAAAAAGCCGCGGTGG CAGGGGGCAAAAAGCCGCGGCGGGCAGAAAGTCCTGGGGGCGGGGGGCAA AAAGCCACGGCCGGCAAAAAACCGCGGCGGCAGGGGGCAAAAAGCCGGGT CTGGCAAAAAGCCGTGGAGGCAAAAAGCCGCGGTGGGCAGAAAGCCATGG CGGCGGGGTGCAAAAAGCCGCAGCGGGCAGAAAGCCGCGGCGGGGGGGCA AAAAGCCGCGGCCCGCAAAAAGCAGCGGCGGCGGGGGTGCAAAAAGCCGC TGCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAGGCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	56	0.0179	-344	c.88 others(11): Show c.8866_*9209del	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4337		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76265824	ATATTTAT others(337): Show ATATTTATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(164): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0001c0011 a0002c0002 others(6): Show a0001c0001 a0001c0011 a0002c0002 a0002c0006 a0002c0007 a0002c0010 a0002c0017 a0008c0019 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0011t0001 a0001c0011t0011 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0017t0003 a0008c0019t0001 a0011c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(164): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0003g0102 a0001c0001t0003g0177 a0001c0001t0003g0185 a0001c0001t0008g0265 a0001c0001t0010g0158 a0001c0001t0013g0171 a0001c0011t0001g0149 a0001c0011t0011g0008 a0002c0002t0001g0154 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0282 a0002c0002t0001g0317 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0003g0015 a0002c0002t0003g0205 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0297 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0303 a0002c0002t0003g0305 a0002c0002t0003g0306 a0002c0002t0003g0307 a0002c0002t0003g0309 a0002c0002t0003g0310 a0002c0002t0003g0311 a0002c0002t0003g0313 a0002c0002t0003g0315 a0002c0002t0003g0318 a0002c0002t0004g0241 a0002c0002t0004g0242 a0002c0002t0004g0243 a0002c0002t0012g0296 a0002c0006t0001g0281 a0002c0006t0001g0284 a0002c0007t0001g0268 a0002c0007t0001g0269 a0002c0007t0001g0272 a0002c0010t0001g0267 a0002c0010t0001g0271 a0002c0017t0003g0324 a0008c0019t0001g0128 a0011c0015t0001g0181	167	324	0.5154	-344	c.830 others(15): Show c.830+368_830+711del	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
TEX29_chr13_111315642_111349248	111340186	ATGTTTAG others(337): Show ATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCATGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	416	0.0024	-344	c.239 others(15): Show c.239+286_239+629del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THSD7B_chr2_136760545_137682718	137487718	ATATTTTG others(337): Show ATATTTTGAGGTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00735.hp1 others(50): Show HG00438.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG02056.hp2 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18961.hp2 NA18990.hp1 NA18993.hp1 NA19000.hp1 NA19057.hp2 NA19084.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0014 a0015 a0016 a0018 a0019 a0021 a0022	a0001c0001 a0001c0004 a0001c0012 others(30): Show a0001c0001 a0001c0004 a0001c0012 a0001c0019 a0001c0031 a0001c0056 a0002c0003 a0002c0006 a0002c0028 a0002c0030 a0002c0044 a0002c0052 a0003c0002 a0003c0014 a0003c0018 a0003c0025 a0003c0040 a0004c0007 a0004c0008 a0004c0051 a0006c0011 a0006c0023 a0006c0032 a0006c0046 a0008c0034 a0012c0050 a0014c0043 a0015c0047 a0016c0026 a0018c0041 a0019c0037 a0021c0039 a0022c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0012t0011 a0001c0019t0016 a0001c0031t0004 a0001c0056t0003 a0002c0003t0009 a0002c0003t0017 a0002c0006t0001 a0002c0028t0001 a0002c0030t0004 a0002c0044t0007 a0002c0052t0008 a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 a0003c0002t0009 a0003c0002t0015 a0003c0014t0002 a0003c0014t0018 a0003c0018t0001 a0003c0025t0001 a0003c0040t0011 a0004c0007t0008 a0004c0008t0010 a0004c0051t0001 a0006c0011t0005 a0006c0023t0002 a0006c0032t0004 a0006c0046t0004 a0008c0034t0001 a0012c0050t0001 a0014c0043t0001 a0015c0047t0002 a0016c0026t0005 a0018c0041t0007 a0019c0037t0005 a0021c0039t0002 a0022c0015t0005	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 others(50): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0003g0081 a0001c0001t0010g0087 a0001c0004t0001g0058 a0001c0004t0002g0039 a0001c0004t0006g0023 a0001c0012t0011g0096 a0001c0019t0016g0090 a0001c0031t0004g0060 a0001c0056t0003g0086 a0002c0003t0009g0073 a0002c0003t0009g0075 a0002c0003t0017g0082 a0002c0006t0001g0067 a0002c0028t0001g0055 a0002c0030t0004g0050 a0002c0044t0007g0059 a0002c0052t0008g0042 a0003c0002t0001g0002 a0003c0002t0001g0003 a0003c0002t0001g0005 a0003c0002t0002g0061 a0003c0002t0006g0066 a0003c0002t0009g0089 a0003c0002t0015g0038 a0003c0014t0002g0001 a0003c0014t0018g0094 a0003c0018t0001g0046 a0003c0025t0001g0006 a0003c0040t0011g0080 a0004c0007t0008g0048 a0004c0007t0008g0049 a0004c0008t0010g0079 a0004c0051t0001g0069 a0006c0011t0005g0095 a0006c0023t0002g0014 a0006c0032t0004g0036 a0006c0046t0004g0017 a0008c0034t0001g0064 a0012c0050t0001g0019 a0014c0043t0001g0033 a0015c0047t0002g0032 a0016c0026t0005g0085 a0018c0041t0007g0007 a0019c0037t0005g0083 a0021c0039t0002g0004 a0022c0015t0005g0098	53	98	0.5408	-344	c.313 others(21): Show c.3138+36712_3138+37055del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMEM132D_chr12_129066726_129909025	129856715	AGGGGAAC others(337): Show AGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATGG GTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACAGAGTCCA GGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGC TGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGG ATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTA ACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	94	0.0106	-344	c.79+ others(17): Show c.79+46202_79+46545del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
WDR37_chr10_1051385_1137372	1117955	CTGCACAC others(337): Show CTGCACACATCTGAGCCGCGTGCACTCAGCCACCCTCAGCCAGCCCTACT TGAAGTCCCTGCACACATCTGAGCCGTGTGCACTCAGCCACCCTCAGCCA GCTCTGTTTGAAGTCCCTGCACGCATCTGAGCCAGGTGCACTCAGCCACC CTCAGCCAGCTGTTTGAAGTCCATGCACACATCTGAGCCGCGTGCACTCA GCCACCCTCAGCCAGCCCTACTTGAAGTCCCTGCACACATCTGAGCCGTG TGCACTCAGCCACCCTCAGCCAGCTCTGTTTGAAGTCCCTGCACGCATCT GAGCCAGGTGCACTCAGCCACCCTCAGCCAGCTGTTTGAAGTCCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0269 a0001c0001t0070g0269	1	362	0.0028	-344	c.110 others(19): Show c.1104-6188_1104-5845del	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
C19orf12_chr19_29693937_29720261	29719430	TAATATAT others(336): Show TAATATATATATTTATATATATAATATACATATTTATATATATATTATAT ATATTTATATATATATTATATTTATATATATTTATATATATTATATATAT ATTATATATATAATATATAAATATATTTATATAATATAAATATATATATT TATATAATATAAATATATATATTTATATATATATAAAATATATATAATAT ATAAGTTTGGACAAAGATATAGAATTATATAATATATAAGTTTGGACAAA GATATAGAATTATATAATATATAATATAATATATCAGTATATATAATTGT ACTATTATATAATTATATATAATTATATATATTTATATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp2 NA18946.hp2 HG02056.hp1 HG02056.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0044 a0001c0002t0001 a0001c0002t0044	a0001c0002t0001g0014 a0001c0002t0001g0071 a0001c0002t0044g0184 a0001c0002t0001g0014 a0001c0002t0001g0071 a0001c0002t0044g0184	3	418	0.0072	-343	c.-46 others(11): Show c.-4659_-4317del	C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding		4170		chr19	TogoVar
CDC42BPA_chr1_226984865_227323492	227023430	CCTTATTA others(336): Show CCTTATTAAGACTTCTCATTTATCTACTTCAAAATGCAGCCCTCTCAGAA AAATCAACAATAATTCTGACTGGAAAGGTATAATACTATCTAATTTGAAC AAACAAACTTGCAATGATAATATTTTAAAGGAAGGCTATCCTAAGCAAAT GAACAAATAAGTAGAAATACATTTAAACCTTAGACTTTTTAAAGCCATTA ATGACCCAACAGTTATACTAAGCAGATATCAACACAGCTGATTTATGAAT TCTTACTATCAAAAACTAAATGCATACATATGATGGAGATGGAAGGGTAG ATCACTGGGGAAAGGAGGGACTGTCAATAAATAGTGATTGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0086 a0002c0004t0005g0086	1	352	0.0028	-343	c.453 others(16): Show c.4531-426_4531-84del	CDC42BPA	ENSG00000143776.20	transcript	ENST00000366766.8	protein_coding	31/36			chr1	TogoVar
DIP2C_chr10_269201_694668	322373	GGCGAGAG others(336): Show GGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	88	0.0114	-343	c.392 others(19): Show c.3924+4290_3924+4632del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1240717	AGTTCTCT others(336): Show AGTTCTCTCACATGGCGCCGTGTCTGGTTCTCTCGCATGGCGCCGTGTCT AGTTGTCTCACATGGTGCCGTTTCTAGTTCTTTCACATGGCGCCATGTCT AGTTACCTCTCACATGGTGCCATGTGTAGTTCTCTCTCACACATAGTGTC ATGTCTAGTTCTCTCTCACACAGAGTATCGTGTCTAGTTCTCTCACATGG CACTGTGTCTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTTACATGG CGCCGTGTCTAGTTCTCTCACATGGTGCTGTGTCTAGTTCTCTCTCACAC ATAGCGTCATGTATAGTTCTGTCTCACACAGAGCATCGTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	40	0.0250	-343	c.74- others(17): Show c.74-18119_74-17777del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 10000 hits)